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VGLUT3‐p.A211V variant fuses stereocilia bundles and elongates synaptic ribbons

ABSTRACT: DFNA25 is an autosomal‐dominant and progressive form of human deafness caused by mutations in the SLC17A8 gene, which encodes the vesicular glutamate transporter type 3 (VGLUT3). To resolve the mechanisms underlying DFNA25, we studied phenotypes of mice harbouring the p.A221V mutation in h...

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Detalles Bibliográficos
Autores principales: Joshi, Yuvraj, Petit, Chloé P., Miot, Stéphanie, Guillet, Marie, Sendin, Gaston, Bourien, Jérôme, Wang, Jing, Pujol, Rémy, El Mestikawy, Salah, Puel, Jean‐Luc, Nouvian, Régis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9299590/
https://www.ncbi.nlm.nih.gov/pubmed/34783032
http://dx.doi.org/10.1113/JP282181